Bethesda, MD. – WHAT: Thirty years after the adoption of the Orphan Drug Act, patients with rare diseases still face incredible obstacles. At the U.S. Conference on Rare Diseases and Orphan Products, with its theme of “The New Era in Health Care,” patients and patient advocates will discuss:
Getting an accurate diagnosis
Supporting research for and the development of treatments
Assuring patient access to appropriate treatment
Strengthening one’s ability to be a self-advocate
WHEN: Oct. 7, 9:45-11:15 a.m.
WHERE: Bethesda North Marriott Hotel & Conference Center, Bethesda, Md.
White Oak Room, Lower Level
WHO: Panelists include:
Lisa Schill, Noonan Syndrome Foundation, vice president and a founding member
Schill is the mother of Max, age 4, who is diagnosed with Noonan syndrome, a rare genetic disease with an estimated prevalence of 1 in 2,000 births.
Katheryn Elibri Frame, D.O., International Foundation for CDKL5 Research, president
After Frame’s daughter was diagnosed with CDKL5—a rare genetic disease with about 600 known cases in the world—Frame, a physician, and her husband helped start the International Foundation for CDKL5 Research.
Steve Mikita, Utah assistant attorney general; has spinal muscular atrophy
Mikita works on behalf of patients in the United States to raise awareness of the importance of the patient’s voice at every step along the drug development process. Spinal muscular atrophy (SMA) manifests in various degrees of severity, which all have in common general muscle wasting and mobility impairment. SMA is the most common genetic cause of infant death.
NORD is a nonprofit organization established in 1983 by leaders of rare-disease patient organizations to represent all Americans affected by rare diseases. NORD provides programs of advocacy, education, research and patient/family services. It works closely with its approximately 200 member organizations representing people with specific rare diseases. NORD has offices in Washington, D.C.; Danbury, Conn.; and Boston. Learn more about NORD at http://www.rarediseases.org. Follow NORD on LinkedIn, Twitter, YouTube and Facebook.
DIA is a neutral, global, professional and member-driven association of nearly 18,000 professionals involved in the discovery, development and life cycle management of pharmaceuticals, biotechnology, medical devices and related health care products. Through our international educational offerings and myriad networking opportunities, DIA provides a global forum for knowledge exchange that fosters the innovation of products, technologies and services to improve health and well-being worldwide. Headquarters are in Horsham, Pa., USA, with offices in Basel, Switzerland; Tokyo, Japan; Mumbai, India; Beijing, China; Washington, D.C.; and Latin America. Visit our website at http://www.diahome.org and follow DIA at: LinkedIn, Twitter, YouTube, Facebook, Flickr and Pinterest.